Toward health technology assessment of whole-genome sequencing diagnostic tests: challenges and solutions. (May 2017)

• Record Type: Journal Article
• Authors: Payne, Katherine; Eden, Martin; Davison, Niall; Bakker, Egbert
• Is Part Of: Personalized medicine. Volume 14:Number 3(2017)
• Page Start: 235
• Page End: 247
• Publication Date: 2017-05
• Subjects: 3Gb -- cost–effectiveness analysis -- diagnosis -- economic evaluation -- genomics -- health technology assessment -- next-generation sequencing -- resource allocation -- whole-genome sequencing; Pharmacogenomics -- Periodicals; Pharmacogenetics -- Periodicals; 615.19
• DOI: 10.2217/pme-2016-0089
• Languages: English
• ISSNs: 1741-0541

Abstract

Whole-genome sequencing (WGS) is being applied within research settings across Europe to develop genomic WGS-based diagnostic tests. The focus of this perspective paper is to describe if, and how, current approaches of health technology assessment could be applied to WGS-based diagnostic tests. This perspective draws on the collective view from a trans-European multidisciplinary consortium of methodologists, clinicians and scientists. Specific challenges can be described by using the PICO (population, intervention, comparator, outcome) framework to inform health technology assessment. Practical solutions are suggested which require joined-up, multidisciplinary working across healthcare systems using existing expert networks so that emergent issues for the health technology assessment of WGS can be met in a timely fashion.